ClinVar Miner

Variants in gene AP5Z1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
449 29 0 13 27 0 2 41

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0
uncertain significance 2 0 16 12
likely benign 0 16 0 13
benign 0 12 13 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
NM_014855.3(AP5Z1):c.1062C>T (p.His354=) rs192441133
NM_014855.3(AP5Z1):c.1132+7C>T rs775865217
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=) rs146682319
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=) rs113014863
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=)
NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=) rs370135619
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=) rs182411153
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=) rs775572689
NM_014855.3(AP5Z1):c.1708-5C>T rs184752711
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=) rs372922535
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=) rs543467648
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611
NM_014855.3(AP5Z1):c.2153+8G>A rs189564026
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr) rs183580097
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala) rs188569082
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg) rs192794637
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) rs775883752
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840
NM_014855.3(AP5Z1):c.366+5C>T rs143800095
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter) rs778457903
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=) rs201203264
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593
NM_014855.3(AP5Z1):c.490A>G (p.Ser164Gly) rs202169962
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=) rs371534878
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg) rs117659667
NM_014855.3(AP5Z1):c.588C>T (p.Ser196=) rs146665638
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=) rs370728528
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) rs572271008
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=) rs146915189
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622

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